Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome.
Warmblood Fragile Foal syndrome (WFFS) is an autosomal recessive condition that affects the maturation of collagen in affected foals. Foals affected with the disease typically die or are euthanised shortly after birth. WFFS is caused by a single nucleotide change at position 2032 of the equine PLOD1...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Public Library of Science (PLoS)
2021-01-01
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| Series: | PLoS ONE |
| Online Access: | https://doi.org/10.1371/journal.pone.0259316 |
| _version_ | 1819349633661403136 |
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| author | Sharon Flanagan Áine Rowe Vivienne Duggan Erin Markle Maureen O'Brien Gerald Barry |
| author_facet | Sharon Flanagan Áine Rowe Vivienne Duggan Erin Markle Maureen O'Brien Gerald Barry |
| author_sort | Sharon Flanagan |
| collection | DOAJ |
| description | Warmblood Fragile Foal syndrome (WFFS) is an autosomal recessive condition that affects the maturation of collagen in affected foals. Foals affected with the disease typically die or are euthanised shortly after birth. WFFS is caused by a single nucleotide change at position 2032 of the equine PLOD1 gene, causing an impairment of the wild-type enzyme. A commercial test for the causative genetic mutation is currently available from companies operating under licence from Cornell University but it has limitations. This test requires amplification of a region of the PLOD1 gene encompassing the site of interest, followed by Sanger sequencing of that region and computational analysis. We describe here the development of an alternative, real-time PCR based assay that rapidly and reliably differentiates between the wild-type and WFFS associated nucleotides without the need for sequencing, thus increasing the potential for high throughput analysis of large numbers of samples in a cost-effective manner. |
| first_indexed | 2024-12-24T19:03:38Z |
| format | Article |
| id | doaj.art-c941a310d2d84bd6aa152fd5e3ad839b |
| institution | Directory Open Access Journal |
| issn | 1932-6203 |
| language | English |
| last_indexed | 2024-12-24T19:03:38Z |
| publishDate | 2021-01-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS ONE |
| spelling | doaj.art-c941a310d2d84bd6aa152fd5e3ad839b2022-12-21T16:43:09ZengPublic Library of Science (PLoS)PLoS ONE1932-62032021-01-011611e025931610.1371/journal.pone.0259316Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome.Sharon FlanaganÁine RoweVivienne DugganErin MarkleMaureen O'BrienGerald BarryWarmblood Fragile Foal syndrome (WFFS) is an autosomal recessive condition that affects the maturation of collagen in affected foals. Foals affected with the disease typically die or are euthanised shortly after birth. WFFS is caused by a single nucleotide change at position 2032 of the equine PLOD1 gene, causing an impairment of the wild-type enzyme. A commercial test for the causative genetic mutation is currently available from companies operating under licence from Cornell University but it has limitations. This test requires amplification of a region of the PLOD1 gene encompassing the site of interest, followed by Sanger sequencing of that region and computational analysis. We describe here the development of an alternative, real-time PCR based assay that rapidly and reliably differentiates between the wild-type and WFFS associated nucleotides without the need for sequencing, thus increasing the potential for high throughput analysis of large numbers of samples in a cost-effective manner.https://doi.org/10.1371/journal.pone.0259316 |
| spellingShingle | Sharon Flanagan Áine Rowe Vivienne Duggan Erin Markle Maureen O'Brien Gerald Barry Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. PLoS ONE |
| title | Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. |
| title_full | Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. |
| title_fullStr | Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. |
| title_full_unstemmed | Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. |
| title_short | Development of a real-time PCR assay to detect the single nucleotide polymorphism causing Warmblood Fragile Foal Syndrome. |
| title_sort | development of a real time pcr assay to detect the single nucleotide polymorphism causing warmblood fragile foal syndrome |
| url | https://doi.org/10.1371/journal.pone.0259316 |
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